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Canine Mendelian disease record

Craniomandibular Osteopathy (Discovered in the Cairn, Scottish and West Highland White Terrier)

Craniomandibular Osteopathy (Discovered in the Cairn, Scottish and West Highland White Terrier). Autosomal dominant (incomplete penetrance). Observed in 18 of 266 breeds tested in the Sniff Atlas, with measured at-risk genotype frequencies drawn from 242,665 dogs (Donner 2023). Because this is a dominant trait, a single copy places a dog at risk rather than making it a silent carrier; whether the phenotype appears still depends on penetrance, modifier genes, and environment.

Dominant trait. A single copy of this variant places a dog at risk; it does not make the dog a silent carrier. The breed frequencies below are therefore at-risk frequencies, and penetrance plus modifier genes determine whether the phenotype actually appears.

OMIA identifier
OMIA:002244-9615
Autosomal dominant (incomplete penetrance)
Source dataset
Sniff Atlas v1.0.1 / DOI
About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

See also OMIA 000236 : Craniomandibular osteopathy, generic

Molecular genetics

Hytönen et al. (2016) reported that a likely causal variant in West Highland White Terriers, Cairn Terriers and Scottish Terriers is a splicing variant "c.1332C>T in exon 15 of SLC37A2 . . . The mutant T allele eliminates a potential binding site for the splicing factor ASF/SF-2". Letko et al. (2020) discovered a likely causal variant for this disorder: "in a Basset Hound, a heterozygous most likely pathogenic splice site variant was found in SLC37A2 (c.1446+1G>A), predicted to lead to exon skipping as shown before in SLC37A2‐associated canine CMO of Terriers."

Inheritance

Padgett and Mostosky (1965) concluded autosomal recessive inheritance in the West Highland White terrier breed. Hytönen et al. (2016) reported that "The determination of the exact mode of inheritance in dogs [in West Highland White Terriers, Cairn Terriers and Scottish Terriers] is not straightforward due to the nature of the leaky splice variant and mild self-limiting phenotype that may remain unobserved and prevent retrospective diagnosis. We found some dogs that were homozygous for the variant but had no reported clinical signs. However, we observed a considerable level of the wild-type SLC37A2 transcript in homozygous dogs in the peripheral blood due to the splicing leakage, suggesting that the leaky expression is sufficient to avoid a clinical phenotype in some cases. We also found several heterozygous dogs that had developed CMO. We found that heterozygous dogs had lower levels of wild-type SLC37A2 transcript compared to the unaffected dogs with individual variation of expression between dogs. This result suggested a dominant disease with incomplete penetrance that could help to explain the reported differences in the severity and duration of CMO among the affected dogs, although alternative models of inheritance cannot be completely ruled out yet."

Human analog

OMIA links this condition to the human gene record in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Gene · OMIM 619136

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:002244-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 10.

  3. Canine models of human rare disorders. · Rare Dis · 2016 · PMID 27803843
  4. Bilateral angular carpal deformity in a dog with craniomandibular osteopathy. · Vet Comp Orthop Traumatol · 2012 · PMID 22366888
  5. Breed susceptibility for developmental orthopedic diseases in dogs · J Am Anim Hosp Assoc · 2002 · PMID 12220032
  6. Computed tomography of craniomandibular osteopathy in a dog. · Veterinary Radiology & Ultrasound · 1994

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Craniomandibular Osteopathy (Discovered in the Cairn, Scottish and West Highland White Terrier) and see the odds for their puppies. Single dominant variant, exact Mendelian math.

Parent A
Parent B
NDAffected
NDAffected
NNUnaffected
NNUnaffected
Unaffected50%
Affected50%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.
Your breed

See what Craniomandibular Osteopathy (Discovered in the Cairn, Scottish and West Highland White Terrier) looks like in your dog's breed.
At-risk frequency by breed

Top 17 well-sampled breeds (n ≥ 50)

Maximum at-risk frequency per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%15%30%
West Highland White Terrier24.5% · n 658
Cairn Terrier7.7% · n 183
Scottish Terrier3.8% · n 237
Boston Terrier0.92% · n 3,702
Coton De Tulear0.48% · n 104
Pekingese0.21% · n 239
Yorkshire Terrier0.20% · n 8,367
American Staffordshire Terrier0.16% · n 42,793
Miniature Pinscher<0.1% · n 658
Dobermann Pinscher<0.1% · n 2,219
Australian Shepherd<0.1% · n 2,296
Pug<0.1% · n 5,154
Border Collie<0.1% · n 6,714
Chihuahua<0.1% · n 4,273
Boxer<0.1% · n 4,557
n = 82,154 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas
Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Craniomandibular Osteopathy (Discovered in the Cairn, Scottish and West Highland White Terrier) is measured; phenotype outcome depends on penetrance and modifiers.
▸ Full table with Wilson 95% confidence intervals
Breed At-risk frequency n tested
West Highland White Terrier 24.5% 658
Cairn Terrier 7.7% 183
Scottish Terrier 3.8% 237
Boston Terrier 0.92% 3,702
Coton De Tulear 0.48% 104
Pekingese 0.21% 239
Yorkshire Terrier 0.20% 8,367
American Staffordshire Terrier 0.16% 42,793
Miniature Pinscher <0.1% 658
Dobermann Pinscher <0.1% 2,219
Australian Shepherd <0.1% 2,296
Pug <0.1% 5,154
Border Collie <0.1% 6,714
Chihuahua <0.1% 4,273
Boxer <0.1% 4,557
Beagle <0.1% 5,292
French Bulldog <0.1% 13,114
▸ Also observed in 1 small-sample breed (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "at-risk dogs observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed Estimate n tested
Lancashire Heeler 5.9% 17

248 additional breeds in the Donner 2023 cohort were tested but showed no at-risk genotypes.

Penetrance

From genotype to phenotype

For this dominant trait, a dog with even one copy is at risk, not a silent carrier. Penetrance is the fraction of at-risk dogs that actually develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated
11
Phenotype confirmed
1
Penetrance range
not yet quantifiable

Fewer than 20 at-risk dogs evaluated; too few to state a penetrance figure.

Predicted disease relevance at the per-dog level is UNPROVEN. The at-risk frequency is measured; phenotype outcome is governed by penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:002244-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002244-9615 · Donner et al. 2023